Perlman syndrome
syndrome characterized by polyhydramnios with neonatal macrosomia, nephromegaly, distinctive facial appearance, renal dysplasia, nephroblastomatosis, and predisposition to Wilms tumor. It shows similarities to Beckwith-Wiedemann syndrome
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Perlman syndrome
Summary
Perlman syndrome is a developmental defect during embryogenesis[1]. It has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2]
Key Facts
- Perlman syndrome's instance of is recorded as developmental defect during embryogenesis[3].
- Perlman syndrome's instance of is recorded as rare disease[4].
- Perlman syndrome's instance of is recorded as class of disease[5].
- Perlman syndrome is a type of syndrome[6].
- Perlman syndrome is a type of polymalformative genetic syndrome with increased risk of developing cancer[7].
- Perlman syndrome is a type of overgrowth syndrome[8].
- Perlman syndrome is a type of disease[9].
- Perlman syndrome's NCI Thesaurus ID is recorded as C103144[10].
- Perlman syndrome's health specialty is recorded as oncology[11].
- Perlman syndrome's genetic association is recorded as DIS3L2[12].
- Perlman syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060476[13].
- Perlman syndrome's exact match is recorded as http://identifiers.org/doid/DOID:0060476[14].
- Perlman syndrome's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_2849[15].
- Perlman syndrome's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
Why It Matters
Perlman syndrome has Wikipedia articles in 6 language editions, a strong signal of global cultural recognition.[2] It is known by 12 alternative names across languages and contexts.[17]